Full data view for gene GLUD2

Information The variants shown are described using the NM_012084.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.145G>A r.(?) p.(Ala49Thr) Unknown - likely benign g.120181683G>A g.121047829G>A GLUD2(NM_012084.3):c.145G>A (p.A49T) - GLUD2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.232G>T r.(?) p.(Ala78Ser) Unknown - likely benign g.120181770G>T g.121047916G>T GLUD2(NM_012084.3):c.232G>T (p.A78S) - GLUD2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.681C>T r.(?) p.(Asn227=) Unknown - likely benign g.120182219C>T - GLUD2(NM_012084.3):c.681C>T (p.N227=) - GLUD2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.887C>T r.(?) p.(Thr296Ile) Unknown - likely benign g.120182425C>T g.121048571C>T GLUD2(NM_012084.3):c.887C>T (p.T296I, p.(Thr296Ile)) - GLUD2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.887C>T r.(?) p.(Thr296Ile) Unknown - VUS g.120182425C>T - GLUD2(NM_012084.3):c.887C>T (p.T296I, p.(Thr296Ile)) - GLUD2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1195A>C r.(?) p.(Lys399Gln) Unknown - VUS g.120182733A>C g.121048879A>C GLUD2(NM_012084.3):c.1195A>C - GLUD2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1241A>G r.(?) p.(Asp414Gly) Unknown - VUS g.120182779A>G g.121048925A>G GLUD2(NM_012084.3):c.1241A>G (p.(Asp414Gly)) - GLUD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1492T>G r.(?) p.(Ser498Ala) Parent #1 - VUS g.120183030T>G g.121049176T>G - - GLUD2_000006 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 6 Lucy Raymond
?/. - c.*236_*242del r.(=) p.(=) Unknown - VUS g.120183451_120183457del g.121049597_121049603del - - GLUD2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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